Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Creb3'

602309

Institutional Source

Beutler Lab

Gene Symbol

Creb3

Ensembl Gene

ENSMUSG00000028466

Gene Name

cAMP responsive element binding protein 3

Synonyms

LZIP-1, LZIP, Luman, LZIP-2

MMRRC Submission

045883-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.803) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43562658-43567061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43566322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 276 (L276P)

Ref Sequence

ENSEMBL: ENSMUSP00000129401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030187] [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000132631] [ENSMUST00000167751]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030187

SMART Domains

Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465

Domain	Start	End	E-Value	Type
Blast:B41	2	76	5e-31	BLAST
B41	82	313	4.66e-73	SMART
IRS	308	401	7.65e-16	SMART
Pfam:Talin_middle	491	652	8.2e-60	PFAM
low complexity region	671	690	N/A	INTRINSIC
internal_repeat_2	699	760	8.94e-6	PROSPERO
low complexity region	766	775	N/A	INTRINSIC
PDB:1ZVZ\|B	820	844	2e-7	PDB
low complexity region	866	879	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
PDB:2LQG\|A	913	1044	2e-44	PDB
PDB:2L7N\|A	1046	1207	1e-101	PDB
Pfam:VBS	1234	1358	9.6e-8	PFAM
internal_repeat_2	1488	1549	8.94e-6	PROSPERO
internal_repeat_3	1623	1769	4.92e-5	PROSPERO
low complexity region	1817	1828	N/A	INTRINSIC
Pfam:VBS	1849	1973	6.2e-67	PFAM
PDB:3DYJ\|B	1974	2293	N/A	PDB
low complexity region	2305	2327	N/A	INTRINSIC
ILWEQ	2336	2533	2.93e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030189

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467

Domain	Start	End	E-Value	Type
Pfam:GBA2_N	142	446	9.4e-106	PFAM
Pfam:DUF608	512	879	1.3e-153	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102944
AA Change: L252P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466
AA Change: L252P

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	132	147	N/A	INTRINSIC
BRLZ	158	222	2.03e-15	SMART
low complexity region	240	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130443

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

Domain	Start	End	E-Value	Type
Pfam:GBA2_N	142	180	5.6e-13	PFAM
Pfam:GBA2_N	178	227	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132631

Predicted Effect

probably damaging
Transcript: ENSMUST00000167751
AA Change: L276P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466
AA Change: L276P

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	156	171	N/A	INTRINSIC
BRLZ	182	246	2.03e-15	SMART
low complexity region	264	277	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

Allele List at MGI

All alleles(2) : Targeted(1) Gene trapped(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,770,823 (GRCm39)	L102V	not run	Het
Abca12	A	T	1: 71,331,580 (GRCm39)	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,748,623 (GRCm39)	I318N	probably benign	Het
Adam10	A	T	9: 70,674,209 (GRCm39)	K524*	probably null	Het
Adamts3	C	T	5: 90,009,349 (GRCm39)	G105R	probably damaging	Het
Adcy7	T	C	8: 89,042,387 (GRCm39)	I418T	probably damaging	Het
Alg9	T	A	9: 50,699,471 (GRCm39)	F165L	probably damaging	Het
Anapc2	G	T	2: 25,167,753 (GRCm39)	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,526,052 (GRCm39)	H1876Q	probably benign	Het
Armc2	G	A	10: 41,802,856 (GRCm39)	R606C	probably benign	Het
Cd163	T	C	6: 124,281,738 (GRCm39)	S14P	probably benign	Het
Cfap74	T	C	4: 155,513,694 (GRCm39)	V502A		Het
Copb2	T	C	9: 98,470,147 (GRCm39)	I891T	probably damaging	Het
Crnkl1	T	A	2: 145,773,269 (GRCm39)	M126L	probably benign	Het
Csrp2	C	T	10: 110,771,045 (GRCm39)	A50V	probably damaging	Het
Ctsd	A	G	7: 141,930,879 (GRCm39)	C284R	probably damaging	Het
Dll3	G	A	7: 27,994,075 (GRCm39)	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,781,104 (GRCm39)		probably benign	Het
Dnah6	C	A	6: 73,104,902 (GRCm39)	E1896*	probably null	Het
Dtwd1	A	G	2: 126,006,679 (GRCm39)	T234A	probably damaging	Het
Fhod3	G	A	18: 25,248,947 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,463 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,742,297 (GRCm39)	I495T	probably damaging	Het
Grhl3	T	C	4: 135,288,532 (GRCm39)	N51S	probably damaging	Het
Gtpbp4	A	T	13: 9,035,366 (GRCm39)		probably null	Het
Hsd17b14	A	C	7: 45,216,209 (GRCm39)	S260R	probably benign	Het
Insig2	A	T	1: 121,235,058 (GRCm39)		probably null	Het
Itgae	T	A	11: 73,029,618 (GRCm39)	V1046D	probably benign	Het
Kif1b	A	T	4: 149,305,447 (GRCm39)		probably null	Het
Kmo	A	G	1: 175,478,225 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,496,483 (GRCm39)	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,793,460 (GRCm39)	C2484*	probably null	Het
Lrrc23	T	A	6: 124,747,711 (GRCm39)	M293L	probably benign	Het
Mphosph6	T	C	8: 118,525,807 (GRCm39)	D47G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naglu	G	A	11: 100,967,436 (GRCm39)	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrc5	T	C	8: 95,248,397 (GRCm39)	S1711P	probably damaging	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or1o2	T	C	17: 37,543,201 (GRCm39)	E20G	probably benign	Het
Or6k2	A	T	1: 173,986,425 (GRCm39)	I29F	probably benign	Het
Osbpl6	G	A	2: 76,423,731 (GRCm39)	A857T	probably damaging	Het
Oscp1	C	A	4: 125,982,201 (GRCm39)	D380E	probably benign	Het
Pdzd7	C	A	19: 45,027,678 (GRCm39)	R265S	probably benign	Het
Piezo2	A	T	18: 63,246,947 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,033 (GRCm39)	R5H	probably benign	Het
Pla2g5	C	A	4: 138,531,845 (GRCm39)	R53L	probably benign	Het
Rbm6	T	C	9: 107,729,905 (GRCm39)	R248G	probably damaging	Het
Rev1	A	T	1: 38,095,526 (GRCm39)	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,579,589 (GRCm39)	N474K	probably benign	Het
Ryr2	T	A	13: 11,842,493 (GRCm39)	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749 (GRCm39)	D837E	probably benign	Het
Sipa1l2	T	C	8: 126,178,727 (GRCm39)	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,307,142 (GRCm39)	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,172,643 (GRCm39)		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,252,226 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,292,293 (GRCm39)	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,784,538 (GRCm39)	S706G	probably benign	Het
Tox2	T	C	2: 163,162,296 (GRCm39)	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,034,909 (GRCm39)	T946A	probably benign	Het
Ubqln1	C	T	13: 58,325,719 (GRCm39)	E546K	probably damaging	Het
Zfp106	A	G	2: 120,354,538 (GRCm39)	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,155,513 (GRCm39)	K395*	probably null	Het

Other mutations in Creb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Creb3	APN	4	43,565,517 (GRCm39)	missense	probably benign
IGL02641:Creb3	APN	4	43,563,311 (GRCm39)	missense	probably benign	0.00
IGL03101:Creb3	APN	4	43,563,081 (GRCm39)	missense	probably benign	0.11
IGL03163:Creb3	APN	4	43,566,315 (GRCm39)	missense	probably damaging	1.00
P0014:Creb3	UTSW	4	43,563,265 (GRCm39)	missense	possibly damaging	0.53
PIT4362001:Creb3	UTSW	4	43,565,472 (GRCm39)	nonsense	probably null
R0959:Creb3	UTSW	4	43,563,509 (GRCm39)	missense	probably damaging	1.00
R1506:Creb3	UTSW	4	43,566,193 (GRCm39)	missense	possibly damaging	0.95
R1624:Creb3	UTSW	4	43,566,375 (GRCm39)	missense	possibly damaging	0.67
R1693:Creb3	UTSW	4	43,566,755 (GRCm39)	missense	probably damaging	1.00
R1794:Creb3	UTSW	4	43,563,302 (GRCm39)	missense	probably benign	0.06
R1956:Creb3	UTSW	4	43,563,279 (GRCm39)	critical splice acceptor site	probably null
R1991:Creb3	UTSW	4	43,565,327 (GRCm39)	missense	probably damaging	1.00
R2179:Creb3	UTSW	4	43,566,306 (GRCm39)	missense	probably damaging	1.00
R3811:Creb3	UTSW	4	43,565,501 (GRCm39)	nonsense	probably null
R4673:Creb3	UTSW	4	43,563,192 (GRCm39)	missense	probably benign	0.20
R4713:Creb3	UTSW	4	43,563,247 (GRCm39)	missense	probably benign	0.00
R5613:Creb3	UTSW	4	43,566,196 (GRCm39)	missense	probably benign	0.41
R6195:Creb3	UTSW	4	43,566,346 (GRCm39)	missense	probably benign	0.23
R7673:Creb3	UTSW	4	43,563,117 (GRCm39)	missense	not run
R7872:Creb3	UTSW	4	43,563,332 (GRCm39)	missense	probably benign	0.04
R8726:Creb3	UTSW	4	43,566,747 (GRCm39)	missense	probably benign	0.31
R9477:Creb3	UTSW	4	43,566,298 (GRCm39)	missense	probably damaging	1.00
R9673:Creb3	UTSW	4	43,563,191 (GRCm39)	missense	probably damaging	0.97
R9706:Creb3	UTSW	4	43,565,520 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTTCAAGCCATGGTGATTG -3'
(R):5'- TCTGACGATAGAGCAGATGGC -3'

Sequencing Primer
(F):5'- CTTCAAGCCATGGTGATTGAGATAGC -3'
(R):5'- CAGATGGCTTCGGCTGATGATC -3'

Posted On

2019-12-03